Incidental Mutation 'R1505:Vwce'
ID 169143
Institutional Source Beutler Lab
Gene Symbol Vwce
Ensembl Gene ENSMUSG00000043789
Gene Name von Willebrand factor C and EGF domains
Synonyms 1300015B04Rik
MMRRC Submission 040868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R1505 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10611582-10643577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10641608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 778 (H778R)
Ref Sequence ENSEMBL: ENSMUSP00000056958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025647] [ENSMUST00000055115]
AlphaFold Q3U515
Predicted Effect probably benign
Transcript: ENSMUST00000025647
SMART Domains Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738

DomainStartEndE-ValueType
Pfam:A1_Propeptide 16 44 1.1e-13 PFAM
Pfam:Asp 73 386 1.1e-112 PFAM
Pfam:TAXi_N 74 229 7.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055115
AA Change: H778R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: H778R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EGF 70 98 2.2e1 SMART
EGF_CA 142 180 6.91e-9 SMART
EGF_CA 181 219 7.75e-12 SMART
EGF_CA 220 262 1.11e-12 SMART
low complexity region 294 312 N/A INTRINSIC
low complexity region 335 353 N/A INTRINSIC
VWC 378 432 2.91e-6 SMART
VWC 435 488 4.58e-4 SMART
VWC 493 551 2.06e-6 SMART
VWC 560 617 9.74e-8 SMART
VWC 621 676 1.35e-10 SMART
VWC 679 725 2.58e-1 SMART
low complexity region 761 772 N/A INTRINSIC
low complexity region 889 903 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,099,431 (GRCm39) R444W probably damaging Het
Adnp A G 2: 168,025,661 (GRCm39) S545P possibly damaging Het
Ankrd17 T C 5: 90,447,885 (GRCm39) R219G possibly damaging Het
Ap2m1 C G 16: 20,361,447 (GRCm39) P372A probably benign Het
Calml3 T A 13: 3,854,071 (GRCm39) T45S probably benign Het
Casp8 A G 1: 58,868,081 (GRCm39) E174G probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap221 A C 1: 119,881,358 (GRCm39) L368R probably benign Het
Chd9 A G 8: 91,733,123 (GRCm39) probably null Het
Cnot1 A T 8: 96,455,295 (GRCm39) I2035N probably damaging Het
Cyp2c67 T C 19: 39,637,408 (GRCm39) R23G probably benign Het
Dnah10 A C 5: 124,831,303 (GRCm39) H777P possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam162b G A 10: 51,463,298 (GRCm39) A123V probably damaging Het
Golgb1 T A 16: 36,740,005 (GRCm39) N2781K possibly damaging Het
Hs2st1 C A 3: 144,140,322 (GRCm39) R333L probably benign Het
Kmt2e A G 5: 23,705,533 (GRCm39) H1319R probably null Het
Necab1 A T 4: 14,960,047 (GRCm39) M300K probably benign Het
Ntrk3 T A 7: 78,110,272 (GRCm39) I321F probably damaging Het
Or5p60 A G 7: 107,724,200 (GRCm39) V90A probably benign Het
Or7e169 A T 9: 19,757,084 (GRCm39) M277K probably benign Het
Or8g52 A G 9: 39,630,774 (GRCm39) N84D probably damaging Het
Or8k41 A T 2: 86,313,557 (GRCm39) H176Q possibly damaging Het
Osbpl6 T C 2: 76,409,586 (GRCm39) S483P probably damaging Het
Pcdhb17 A C 18: 37,619,875 (GRCm39) N555T probably damaging Het
Pdgfc G A 3: 81,116,543 (GRCm39) R299H possibly damaging Het
Ptpn7 A T 1: 135,062,302 (GRCm39) T83S probably benign Het
Rapgef5 T C 12: 117,652,354 (GRCm39) V79A possibly damaging Het
Rexo5 T A 7: 119,398,826 (GRCm39) C54* probably null Het
Riok3 A G 18: 12,285,935 (GRCm39) K418R probably benign Het
Robo4 G A 9: 37,314,523 (GRCm39) G170D probably damaging Het
Rpl8 A G 15: 76,788,610 (GRCm39) D33G possibly damaging Het
Rspo2 T C 15: 42,939,239 (GRCm39) T184A probably damaging Het
Ryr2 A T 13: 11,569,478 (GRCm39) M4942K possibly damaging Het
Sel1l T C 12: 91,780,736 (GRCm39) Y585C probably damaging Het
Slc25a11 G T 11: 70,537,650 (GRCm39) D13E probably benign Het
Slc5a6 G T 5: 31,194,455 (GRCm39) H584N probably benign Het
Snrpf A G 10: 93,419,381 (GRCm39) V69A possibly damaging Het
Sorbs3 T A 14: 70,428,251 (GRCm39) K475* probably null Het
Speg G A 1: 75,352,186 (GRCm39) V35I probably benign Het
Tlk2 T G 11: 105,151,121 (GRCm39) V468G probably damaging Het
Trim6 T A 7: 103,881,771 (GRCm39) W341R probably damaging Het
Ttll5 T A 12: 85,926,184 (GRCm39) I326N probably damaging Het
Vipas39 T C 12: 87,292,934 (GRCm39) Y318C probably damaging Het
Vmn1r185 T A 7: 26,310,903 (GRCm39) I201F probably damaging Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Other mutations in Vwce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Vwce APN 19 10,641,875 (GRCm39) splice site probably null
IGL01358:Vwce APN 19 10,641,773 (GRCm39) missense possibly damaging 0.86
IGL02330:Vwce APN 19 10,624,165 (GRCm39) missense possibly damaging 0.96
IGL02477:Vwce APN 19 10,641,982 (GRCm39) splice site probably null
IGL02551:Vwce APN 19 10,622,400 (GRCm39) missense possibly damaging 0.71
IGL02606:Vwce APN 19 10,632,712 (GRCm39) splice site probably benign
IGL02633:Vwce APN 19 10,625,858 (GRCm39) missense probably damaging 0.98
IGL02656:Vwce APN 19 10,641,716 (GRCm39) missense probably benign
IGL02884:Vwce APN 19 10,623,943 (GRCm39) missense possibly damaging 0.53
IGL02973:Vwce APN 19 10,632,764 (GRCm39) nonsense probably null
IGL03038:Vwce APN 19 10,624,035 (GRCm39) missense possibly damaging 0.86
IGL03329:Vwce APN 19 10,637,360 (GRCm39) missense possibly damaging 0.73
PIT4403001:Vwce UTSW 19 10,615,461 (GRCm39) missense possibly damaging 0.53
PIT4431001:Vwce UTSW 19 10,641,946 (GRCm39) missense possibly damaging 0.53
PIT4519001:Vwce UTSW 19 10,641,946 (GRCm39) missense possibly damaging 0.53
R0042:Vwce UTSW 19 10,624,177 (GRCm39) missense probably benign
R0081:Vwce UTSW 19 10,641,453 (GRCm39) critical splice acceptor site probably null
R0142:Vwce UTSW 19 10,641,976 (GRCm39) missense probably damaging 0.97
R0165:Vwce UTSW 19 10,637,337 (GRCm39) splice site probably benign
R0948:Vwce UTSW 19 10,630,441 (GRCm39) missense probably damaging 1.00
R1053:Vwce UTSW 19 10,641,463 (GRCm39) missense probably benign 0.18
R1623:Vwce UTSW 19 10,624,108 (GRCm39) nonsense probably null
R1672:Vwce UTSW 19 10,630,459 (GRCm39) missense possibly damaging 0.92
R1882:Vwce UTSW 19 10,615,520 (GRCm39) missense possibly damaging 0.53
R3849:Vwce UTSW 19 10,624,269 (GRCm39) missense probably damaging 0.97
R4292:Vwce UTSW 19 10,636,996 (GRCm39) missense probably benign 0.00
R4293:Vwce UTSW 19 10,636,996 (GRCm39) missense probably benign 0.00
R4531:Vwce UTSW 19 10,641,710 (GRCm39) missense probably benign 0.01
R4678:Vwce UTSW 19 10,642,012 (GRCm39) missense possibly damaging 0.86
R4720:Vwce UTSW 19 10,625,831 (GRCm39) missense possibly damaging 0.85
R4737:Vwce UTSW 19 10,627,943 (GRCm39) missense probably benign 0.33
R4864:Vwce UTSW 19 10,628,000 (GRCm39) missense probably benign 0.01
R4916:Vwce UTSW 19 10,624,243 (GRCm39) missense probably damaging 0.98
R4939:Vwce UTSW 19 10,622,414 (GRCm39) missense probably damaging 0.98
R5605:Vwce UTSW 19 10,635,402 (GRCm39) missense possibly damaging 0.95
R5735:Vwce UTSW 19 10,624,431 (GRCm39) missense probably benign 0.08
R5780:Vwce UTSW 19 10,627,983 (GRCm39) missense probably damaging 1.00
R6158:Vwce UTSW 19 10,621,585 (GRCm39) missense possibly damaging 0.91
R6383:Vwce UTSW 19 10,636,956 (GRCm39) nonsense probably null
R6920:Vwce UTSW 19 10,642,057 (GRCm39) missense probably benign
R7201:Vwce UTSW 19 10,615,479 (GRCm39) missense possibly damaging 0.72
R7276:Vwce UTSW 19 10,641,538 (GRCm39) missense possibly damaging 0.53
R7423:Vwce UTSW 19 10,641,704 (GRCm39) missense probably benign 0.02
R7474:Vwce UTSW 19 10,624,305 (GRCm39) missense possibly damaging 0.93
R7843:Vwce UTSW 19 10,641,647 (GRCm39) missense probably benign 0.01
R8254:Vwce UTSW 19 10,627,938 (GRCm39) missense probably damaging 0.98
R8782:Vwce UTSW 19 10,615,491 (GRCm39) missense probably benign 0.33
R9154:Vwce UTSW 19 10,625,850 (GRCm39) missense possibly damaging 0.91
R9369:Vwce UTSW 19 10,624,061 (GRCm39) missense probably benign 0.04
R9458:Vwce UTSW 19 10,631,688 (GRCm39) missense possibly damaging 0.95
R9664:Vwce UTSW 19 10,615,481 (GRCm39) missense probably benign 0.33
RF020:Vwce UTSW 19 10,630,449 (GRCm39) missense probably damaging 1.00
X0018:Vwce UTSW 19 10,634,026 (GRCm39) missense possibly damaging 0.86
Z1177:Vwce UTSW 19 10,624,227 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- GCATCTATCCCCAGAATGGCTCAC -3'
(R):5'- GCTGTCTGAGTCCCAAAGGTTGAAG -3'

Sequencing Primer
(F):5'- ATGGCTCACTTCAACTAGGG -3'
(R):5'- TCCCTGGAATGGCTGGAG -3'
Posted On 2014-04-13